Stiff-Person Syndrome

Autor: Colin D. Lambert, Anthony E. Lang, Mandar S. Jog
Rok vydání: 1992
Předmět:
Zdroj: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 19:383-388
ISSN: 2057-0155
0317-1671
DOI: 10.1017/s0317167100042025
Popis: The stiff-person syndrome is a disorder of persistent, painful muscle contractions predominately affecting the axial musculature. We describe a patient with this disorder and review its pathophysiology. Molecular biologic and immunologic techniques have recently added to the understanding of the mechanism of this disorder. Association with diseases such as diabetes, vitiligo and hypothyroidism have strengthened the auto-immune nature of this syndrome. Auto-antibodies against glutamic acid decarboxylase (GAD), an intraneuronal enzyme, have been implicated in the etiology of this unique disease. Therapeutic intervention with agents such as benzodiazepines that modify central GABAergic activity have demonstrated significant benefit in patients with stiff-person syndrome.
Databáze: OpenAIRE